Genes in panel

STRs in panel

Prev Next

CNBP_CCTG 5

Regions in panel

Prev Next

This Panel is marked as Retired

Research panel - Severe Paediatric Disorders
Gene: WDR81

WDR81 (WD repeat domain 81)
EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: WDR81; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) | Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Hydrocephalus, congenital, 3, with brain anomalies, 617967
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185

OMIM

Clinvar variants

Variants in WDR81

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene WDR81 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene WDR81 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to WDR81.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to WDR81. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: WDR81 was added gene: WDR81 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WDR81 was set to